G19R (p.Gly19Arg) variant of DDX41 (Q9UJV9)
G19R (p.Gly19Arg) in DDX41 (Q9UJV9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
G19R (p.Gly19Arg) variant details
- p.Gly19Arg
- ExAC rs780643002
- TOPMed rs780643002
- gnomAD rs780643002
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.02
- CADD 17.00
- PolyPhen-2 0.01
- SIFT 0.33
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available